RNA Elements Involved in Splicing

The role of gene polymorphism in HLA class I splicing

“…The first level of control in splicing is the selection of the 5′ and 3′ splice site, including the branch point sequence and the polypyrimidine tract (Breathnach & Chambon, ; Shapiro & Senapathy, ; Carmel et al ., ; Sheth et al ., ; Gao et al ., ; Mueller & Hertel, ). In several HLA alleles, polymorphism is present in either of these sites, directly resulting in deactivation of the splicing, leading to exon skipping or intron retention and resulting in aberrant expression.…”

“…The enhancer sequences can serve as binding sites for SR (serine/arginine‐rich) and other proteins that are involved in recruiting the spliceosomal proteins to the splice sites. The silencing sequences can interact with negative regulators that often belong to the heterogeneous nuclear ribonucleoproteins (hnRNP) family, protein particles able to repress splicing by various mechanisms (Cartegni et al ., ; Graveley, ; Mueller & Hertel, ). The influence of these factors has not been extensively studied in HLA; however, studies by Královičová et al .…”